This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
Transcription factors with Perturb-seq knockdown data for SLC25A12. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = SLC25A12 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of SLC25A12, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr2:171,687,283–171,688,178 | 206.7 kb | Distal (>10kb) Multiome | 886 | |
| chr2:171,893,197–171,894,662 | 88 bp | At TSS Multiome | 909 | |
| chr2:171,922,015–171,923,029 | 28.2 kb | Distal (>10kb) Multiome | 901 | |
| chr2:171,999,394–172,000,424 | 105.7 kb | Distal (>10kb) Multiome | 1019 | |
| chr2:172,080,964–172,081,603 | 187.0 kb | Distal (>10kb) Multiome | 101 | |
| chr2:172,084,336–172,086,019 | 191.1 kb | Distal (>10kb) Multiome | 903 | |
| chr2:172,086,500–172,087,497 | 192.7 kb | Distal (>10kb) Multiome | 254 | |
| chr2:172,101,429–172,103,305 | 208.7 kb | Distal (>10kb) Multiome | 953 | |
| chr2:172,106,181–172,106,692 | 212.2 kb | Distal (>10kb) Multiome | 308 | |
| chr2:172,131,690–172,132,350 | 237.7 kb | Distal (>10kb) Multiome | 102 | |
| chr2:172,172,453–172,173,020 | 278.4 kb | Distal (>10kb) Multiome | 628 |
Genomic view of the SLC25A12 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.